Congenital adrenal hyperplasia: a qualitative study on disease and treatment, doubts, anguishes and relationships (part I)

OBJECTIVE: To understand the meanings/thoughts of a group of parents, patients and physicians regarding congenital adrenal hyperplasia (CAH), and to evaluate their anguishes, doubts and anxieties. METHODS: We selected 21 subjects: 7 pediatric endocrinologists from five Brazilian Public Health System institutions, 9 parents and 6 patients with CAH, according to the qualitative research model. Three of the studied categories are presented: disease and treatment, doubts and anguishes and relationships. RESULTS: Parents' main anguishes relate to the situation of an unnamed sex at birth. A sense of loneliness when dealing with the disease is the major anguish among patients, whereas physicians show hopelessness with the passivity parents and patients. CONCLUSIONS: The apparent submissiveness of patients/parents during consultations must be evaluated cautiously. University Hospitals outpatient clinic dynamics have a direct effect on this behavior: physicians do not talk openly with parents who in turn do not talk with their children, whereas patients chose to protect their parents from additional suffering. Thus, some miscommunication is noticeable among these subjects. These observations suggest that a special mindful measure should be built for these patients.OBJETIVO: Compreender significados e pensamentos de um grupo de pais, pacientes e médicos sobre a hiperplasia adrenal congênita (HAC) e analisar angústias, dúvidas e ansiedades. MÉTODOS: Foram selecionados 21 sujeitos: 7 especialistas de cinco instituições do Sistema Único de Saúde (SUS), 9 familiares e 6 pacientes com HAC, seguindo padrões da pesquisa qualitativa. Neste artigo, apresentaram-se três categorias: doença e tratamento, dúvidas e angústias e relacionamentos. RESULTADOS: As principais angústias dos pais relacionam-se à indefinição sexual ao nascimento. Para pacientes, a angústia maior relaciona-se ao sentimento de solidão ao lidar com a doença e seu tratamento, enquanto médicos mostram-se inconformados com a passividade dos pais/pacientes. CONCLUSÕES: A passividade de pacientes/familiares nas consultas deve ser avaliada com cautela, pois a dinâmica do ambulatório dos hospitais-escola tem efeito neste comportamento: os médicos não conversam abertamente com os pais, enquanto estes não conversam com seus filhos, que, por sua vez, poupam os pais de mais sofrimento. Constatou-se dificuldade de comunicação entre esses vários sujeitos. Essas observações permitem sugerir que uma medida especial de atenção a esses pacientes deva ser construída.Universidade Federal de São Paulo (UNIFESP) Departamento de MedicinaHospital Infantil Darcy VargasUNIFESP Departamento de PediatriaHospital e Maternidade São LuizUNIFESP, Depto. de MedicinaUNIFESP, Depto. de PediatriaSciEL

Management framework paradigms for disorders of sex development

ABSTRACT Until 2005, questions regarding medical treatment and diagnostic information on Disorders of Sex Development (DSD) were not systematically discussed with both the patients and their families; however, the way these patients are currently treated have been changing with time. Interventional changes in the clinical-psychotherapeutic-surgical areas of DSD determine not only different medical recommendations but also help to place the patient and the family into the decisional process of therapy. We must consider two paradigmatic periods that have influenced and transformed the clinical management framework of patients with DSD: a) The "Money era" (1955), which emphasized the role of the gonads as the diagnostic criterion, having the environment as determinant of the sex identity; and b) The Chicago Consensu

Variabilidade genética em bandos de queixada (Tayassu pecari) do Parque Nacional das Emas utilizando marcadores RAPD (Random Amplified Polymorphic DNA)

Nowadays, the analysis of genetic variability has a highlighted roll in the definition of conservation strategies and natural populations management. In this context, the goal of this study was to evaluate the pattern of genetic variability on Tayassu pecari groups from Emas National Park, using RAPD markers. DNA from 182 individuals, distributed among eight groups, were extracted and used to amplify 10 primers previously selected through PCR. The obtained data were used to estimate the magnitude and distribution of variability within and among the groups using AMOVA. In order to analyze, in an explicit way, the patterns of spatial variation patterns, Pearson correlation coefficient (r) was estimated between the matrix of genetic distances and geographic among the groups, considering their central area of life, estimated from telemetry data. From the ten primers, 129 loci were obtained, which 88% (114) were polymorphic, ranging between 37% and 78% in the groups. The value of ?sT obtained from AMOVA was equal to 0.11 (P < 0.0001 - 10000 permutations); a high value considering the only local population distributed in regional scale. Distances among pares of groups (?sT) ranged between 4% and 29%, illustrating the heterogeneity of variability on spatial scale. Key words: Tayassu pecari, RAPD, genetic variability.O estudo das espécies presentes nos fragmentos remanescentes e/ou preservadas nos parques e reservas ainda existentes ajuda a definir estratégias de manejo, de conservação e de uso sustentado dos recursos naturais dos diferentes biomas. A análise da variabilidade genética possui hoje um papel de destaque na definição dessas estratégias. Nesse contexto, o objetivo deste trabalho foi avaliar os padrões de variabilidade genética em bandos de queixada (Tayassu pecari) do Parque Nacional das Emas (PNE), utilizando marcadores do tipo RAPD. O DNA de 182 indivíduos, distribuídos em oito bandos, foi extraído e utilizado para a amplificação via PCR (reação em cadeia da polimerase) de dez primers previamente selecionados. Os dados foram utilizados para estimar a magnitude e a distribuição da variabilidade entre bandos e dentro dos bandos por meio da Análise de Variância Molecular (AMOVA). Com base nos dez primers, foram obtidos 129 locos, dos quais 88% (114) foram polimórficos, variando entre 37% e 78% nos bandos. O valor das distâncias dos pares de bandos ?sT obtido pela AMOVA foi igual a 0,11 (P < 0,0001 - 10.000 permutações), que pode ser considerado elevado, já que se trata, de uma única grande população local distribuída em uma escala regional (PNE). As distâncias entre os pares de bandos (?sT) variaram entre 4% e 29%, ilustrando a heterogeneidade da variabilidade nessa escala espacial. Com base no cálculo indireto do fluxo gênico, podese perceber que o número médio de indivíduos migrantes, por geração, entre os bandos de queixada, foi igual a dois, valor suficiente para suprimir a maior parte dos efeitos da deriva genética sob a diferenciação entre os bandos. Palavras-chave: Tayassu pecari, RAPD, variabilidade genética

Heterofucan from Sargassum filipendula Induces Apoptosis in HeLa Cells

Fucan is a term used to denominate a family of sulfated polysaccharides rich in sulfated l-fucose. Heterofucan SF-1.5v was extracted from the brown seaweed Sargassum filipendula by proteolytic digestion followed by sequential acetone precipitation. This fucan showed antiproliferative activity on Hela cells and induced apoptosis. However, SF-1.5v was not able to activate caspases. Moreover, SF-1.5v induced glycogen synthase kinase (GSK) activation, but this protein is not involved in the heterofucan SF-1.5v induced apoptosis mechanism. In addition, ERK, p38, p53, pAKT and NFκB were not affected by the presence of SF-1.5v. We determined that SF-1.5v induces apoptosis in HeLa mainly by mitochondrial release of apoptosis-inducing factor (AIF) into cytosol. In addition, SF-1.5v decreases the expression of anti-apoptotic protein Bcl-2 and increased expression of apoptogenic protein Bax. These results are significant in that they provide a mechanistic framework for further exploring the use of SF-1.5v as a novel chemotherapeutics against human cervical cancer

In Vitro Antioxidant, Anticoagulant and Antimicrobial Activity and in Inhibition of Cancer Cell Proliferation by Xylan Extracted from Corn Cobs

Xylan is one of most abundant polymer after cellulose. However, its potential has yet to be completely recognized. Corn cobs contain a considerable reservoir of xylan. The aim of this work was to study some of the biological activities of xylan obtained from corn cobs after alkaline extraction enhanced by ultrasonication. Physical chemistry and infrared analyses showed 130 kDa heteroxylan containing mainly xylose:arabinose: galactose:glucose (5.0:1.5:2.0:1.2). Xylan obtained exhibited total antioxidant activity corresponding to 48.5 mg of ascorbic acid equivalent/g of xylan. Furthermore, xylan displayed high ferric chelating activity (70%) at 2 mg/mL. Xylan also showed anticoagulant activity in aPTT test. In antimicrobial assay, the polysaccharide significantly inhibited bacterial growth of Klebsiella pneumoniae. In a test with normal and tumor human cells, after 72 h, only HeLa tumor cell proliferation was inhibited (p < 0.05) in a dose-dependent manner by xylan, reaching saturation at around 2 mg/mL, whereas 3T3 normal cell proliferation was not affected. The results suggest that it has potential clinical applications as antioxidant, anticoagulant, antimicrobial and antiproliferative compounds

Antioxidant and Antiproliferative Activities of Heterofucans from the Seaweed Sargassum filipendula

Fucan is a term used to denominate a type of polysaccharide which contains substantial percentages of l-fucose and sulfate ester groups. We obtained five heterofucans from Sargassum filipendula by proteolytic digestion followed by sequential acetone precipitation. These heterofucans are composed mainly of fucose, glucose, glucuronic acid, galactose and sulfate. These fucans did not show anticoagulant activity in PT and aPTT tests. Their antioxidant activity was evaluated using the follow tests; total antioxidant capacity, scavenging hydroxyl and superoxide radicals, reducing power and ferrous ion [Fe(II)] chelating. All heterofucans displayed considerable activity, especially SF-1.0v which showed the most significant antioxidant potential with 90.7 ascorbic acid equivalents in a total antioxidant capacity test and similar activity when compared with vitamin C in a reducing power assay. The fucan antiproliferative activity was performed with HeLa, PC3 and HepG2 cells using MTT test. In all tested conditions the heterofucans exhibited a dose-dependent effect. The strongest inhibition was observed in HeLa cells, where SF-1.0 and SF-1.5 exhibited considerable activity with an IC50 value of 15.69 and 13.83 μM, respectively. These results clearly indicate the beneficial effect of S. filipendula polysaccharides as antiproliferative and antioxidant. Further purification steps and additional studies on structural features as well as in vivo experiments are needed to test the viability of their use as therapeutic agents

Genomic Surveillance of Yellow Fever Virus Epizootic in São Paulo, Brazil, 2016 – 2018

São Paulo, a densely inhabited state in southeast Brazil that contains the fourth most populated city in the world, recently experienced its largest yellow fever virus (YFV) outbreak in decades. YFV does not normally circulate extensively in São Paulo, so most people were unvaccinated when the outbreak began. Surveillance in non-human primates (NHPs) is important for determining the magnitude and geographic extent of an epizootic, thereby helping to evaluate the risk of YFV spillover to humans. Data from infected NHPs can give more accurate insights into YFV spread than when using data from human cases alone. To contextualise human cases, identify epizootic foci and uncover the rate and direction of YFV spread in São Paulo, we generated and analysed virus genomic data and epizootic case data from NHPs in São Paulo. We report the occurrence of three spatiotemporally distinct phases of the outbreak in São Paulo prior to February 2018. We generated 51 new virus genomes from YFV positive cases identified in 23 different municipalities in São Paulo, mostly sampled from NHPs between October 2016 and January 2018. Although we observe substantial heterogeneity in lineage dispersal velocities between phylogenetic branches, continuous phylogeographic analyses of generated YFV genomes suggest that YFV lineages spread in São Paulo at a mean rate of approximately 1km per day during all phases of the outbreak. Viral lineages from the first epizootic phase in northern São Paulo subsequently dispersed towards the south of the state to cause the second and third epizootic phases there. This alters our understanding of how YFV was introduced into the densely populated south of São Paulo state. Our results shed light on the sylvatic transmission of YFV in highly fragmented forested regions in São Paulo state and highlight the importance of continued surveillance of zoonotic pathogens in sentinel species